RNU12
Chr 22q13.2RNA, U12 small nuclear
- Aliases:
- RNU12-1
- MANE:
- ENST00000362512.1
Annotations refreshed 10 hours ago.
Predicted protein structure
No predicted 3D structure for RNU12. Non-coding genes and pseudogenes typically have no protein product.
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalRare genetic inflammatory skin disorders
BIALLELIC, autosomal or pseudoautosomalRare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
craniosynostosis-anal anomalies-porokeratosis syndrome
0.62Craniosynostosis - anal anomalies - porokeratosis
0.62porokeratosis
0.37congenital cerebellar ataxia due to RNU12 mutation
0.37gastric cancer
0.07neoplasm
0.04rheumatoid arthritis
0.02cancer
0.01type 2 diabetes mellitus
0.01cerebellar ataxia
0.00
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.